Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

@article{Foster1994CampomelicDA,
  title={Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene},
  author={Jamie W. Foster and Marina A. Dominguez-Steglich and Silvana Guioli and Cheni Kwok and Polly A. Weller and Milena Stevanovi{\'c} and Jean Weissenbach and Sahar Mansour and Ian D. Young and Peter N. Goodfellow and J. David Brook and Alan J. Schafer},
  journal={Nature},
  year={1994},
  volume={372},
  pages={525-530}
}
Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development. 
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